Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
D000818:Animals; D019556:COS Cells; D002478:Cells, Cultured; D002522:Chlorocebus aethiops; D004721:Endoplasmic Reticulum / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism*; D005087:Glucan 1,4-alpha-Glucosidase / Q000235:genetics* / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000235:genetics* / Q000378:metabolism; D006056:Golgi Apparatus / Q000378:metabolism*; D006801:Humans; D007223:Infant; D009154:Mutation / Q000235:genetics; D012867:Skin / Q000378:metabolism; D000520:alpha-Glucosidases
D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase